ClinVar Miner

Submissions for variant NM_004553.6(NDUFS6):c.344G>A (p.Cys115Tyr)

dbSNP: rs267606913
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000006389 SCV004200038 likely pathogenic Mitochondrial complex 1 deficiency, nuclear type 9 2023-04-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003555940 SCV004292802 likely pathogenic not provided 2023-06-15 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Cys115 amino acid residue in NDUFS6. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 28429146, 30948790). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 6018). This missense change has been observed in individuals with mitochondrial complex I deficiency (PMID: 19259137). This variant is present in population databases (rs267606913, gnomAD 0.01%). This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 115 of the NDUFS6 protein (p.Cys115Tyr).
OMIM RCV000006389 SCV000026571 pathogenic Mitochondrial complex 1 deficiency, nuclear type 9 2009-09-01 no assertion criteria provided literature only

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